CLEC2A C-type lectin domain family 2 member A [Homo sapiens (human)] - Gene

Summary

Official Symbol: CLEC2Aprovided by HGNC
Official Full Name: C-type lectin domain family 2 member Aprovided by HGNC
Primary source: HGNC:HGNC:24191
See related: Ensembl:ENSG00000188393 MIM:612087; AllianceGenome:HGNC:24191
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KACL; PILAR; UNQ5792; INPE5792
Summary: Enables protein homodimerization activity. Predicted to be involved in natural killer cell mediated cytotoxicity. Predicted to act upstream of or within several processes, including T cell receptor signaling pathway; regulation of actin filament polymerization; and regulation of interleukin-2 production. Located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward skin (RPKM 6.7) See more
Orthologs: all
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Genomic context

Location:: 12p13.31

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (9877742..9932370, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (9767385..9818588, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (10051275..10084969, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NK Cell and Fibroblast-Mediated Regulation of Skin Squamous Cell Carcinoma Invasion by CLEC2A Is Compromised in Xeroderma Pigmentosum.
Title: NK Cell and Fibroblast-Mediated Regulation of Skin Squamous Cell Carcinoma Invasion by CLEC2A Is Compromised in Xeroderma Pigmentosum.
A Comprehensive Tyrosine Phosphoproteomic Analysis Reveals Novel Components of the Platelet CLEC-2 Signaling Cascade.
Title: A Comprehensive Tyrosine Phosphoproteomic Analysis Reveals Novel Components of the Platelet CLEC-2 Signaling Cascade.
Review of C-type lectin-like receptor 2 and podoplanin interactions [review]
Title: Physiologic and pathophysiologic roles of interaction between C-type lectin-like receptor 2 and podoplanin: partners from in utero to adulthood.
PDGF upregulates the expression of CLEC-2 on dendritic cells to induce T regulatory cells.
Title: PDGF upregulates CLEC-2 to induce T regulatory cells.
Key residues at the membrane-distal surface of KACL, but not glycosylation, determine the functional interaction of the keratinocyte-specific C-type lectin-like receptor KACL with its high-affinity receptor NKp65
Title: Key residues at the membrane-distal surface of KACL, but not glycosylation, determine the functional interaction of the keratinocyte-specific C-type lectin-like receptor KACL with its high-affinity receptor NKp65.
CLEC-2, unlike platelet ITAM receptors, is not regulated by proteolysis and can be used to monitor platelet-derived microparticles
Title: CLEC-2 expression is maintained on activated platelets and on platelet microparticles.
Keratinocytes express KACL and are capable of stimulating NKp65-expressing cells in a KACL-dependent manner.
Title: Interaction of C-type lectin-like receptors NKp65 and KACL facilitates dedicated immune recognition of human keratinocytes.
CLEC-2 is the receptor for podoplanin, a sialoglycoprotein implicated in tumor-induced platelet aggregation and tumor metastasis[review]
Title: Novel interactions in platelet biology: CLEC-2/podoplanin and laminin/GPVI.
T-cell PILAR signaling through CD161 supports CD3 antibody-dependent and antigen-specific T-cell proliferation by increasing the expression of antiapoptotic Bcl-xL and induces secretion of T helper type 1 cytokines
Title: PILAR is a novel modulator of human T-cell expansion.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of C-type lectin domain family 2, member A (CLEC2A) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in natural killer cell mediated cytotoxicity	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: C-type lectin domain family 2 member A

Names: keratinocyte-associated C-type lectin; proliferation-induced lymphocyte-associated receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001130711.2 → NP_001124183.1 C-type lectin domain family 2 member A isoform 1

See identical proteins and their annotated locations for NP_001124183.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

EF127467

Consensus CDS

CCDS44829.1

UniProtKB/Swiss-Prot

A5Y4G5, A9QKS2, A9QKS3, Q6UVW9

Related

ENSP00000396163.1, ENST00000455827.2

Conserved Domains (1) summary

cd03593
Location:58 → 169

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
NM_207375.3 → NP_997258.1 C-type lectin domain family 2 member A isoform 2

See identical proteins and their annotated locations for NP_997258.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AC091814, AY359126, EF127467

Consensus CDS

CCDS8606.1

UniProtKB/Swiss-Prot

Q6UVW9

Related

ENSP00000339732.4, ENST00000339766.8

Conserved Domains (1) summary

cd03593
Location:58 → 137

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

9877742..9932370 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011520657.3 → XP_011518959.1 C-type lectin domain family 2 member A isoform X3

Conserved Domains (1) summary

cd03593
Location:58 → 135

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
XM_047428830.1 → XP_047284786.1 C-type lectin domain family 2 member A isoform X4
XM_011520654.3 → XP_011518956.1 C-type lectin domain family 2 member A isoform X1

Conserved Domains (1) summary

cd03593
Location:58 → 135

CLECT_NK_receptors_like; C-type lectin-like domain (CTLD) of the type found in natural killer cell receptors (NKRs)
XM_047428829.1 → XP_047284785.1 C-type lectin domain family 2 member A isoform X2

RNA

XR_007063076.1 RNA Sequence
XR_007063074.1 RNA Sequence
XR_007063075.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

9767385..9818588 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054372024.1 → XP_054227999.1 C-type lectin domain family 2 member A isoform X3
XM_054372025.1 → XP_054228000.1 C-type lectin domain family 2 member A isoform X4
XM_054372023.1 → XP_054227998.1 C-type lectin domain family 2 member A isoform X2